Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
LDLR Gene
Low density lipoprotein receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Rigid Spine Muscular Dystrophy
Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems
  • 1.1K
  • 24 Dec 2020
Topic Review
Retinitis Pigmentosa
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 1.1K
  • 04 Jan 2021
Topic Review
Atopic Dermatitis
Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood; in others, it does not begin until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red rashes that come and go. The rashes can occur on any part of the body, although the pattern tends to be different at different ages. In affected infants, the rashes commonly occur on the face, scalp, hands, and feet. In children, the rashes are usually found in the bend of the elbows and knees and on the front of the neck. In adolescents and adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of the elbows and knees. Scratching the itchy skin can lead to oozing and crusting of the rashes and thickening and hardening (lichenification) of the skin. The itchiness can be so severe as to disturb sleep and impair a person's quality of life.
  • 1.1K
  • 31 Dec 2020
Topic Review
Clock Genes
Inflammation is a common feature of several diseases, including obesity, diabetes and neurodegenerative disorders. Circadian clock genes are expressed and oscillate in many cell types such as macrophages, neurons and pancreatic β cells. During inflammation, these endogenous clocks control the temporal gating of cytokine production, the antioxidant response, chemokine attraction and insulin secretion, among other processes. Deletion of clock genes in macrophages or brain-resident cells induces a higher production of inflammatory cytokines and chemokines, and this is often accompanied by an increased oxidative stress. In the context of obesity and diabetes, a high-fat diet disrupts the function of clock genes in macrophages and in pancreatic β cells, contributing to inflammation and systemic insulin resistance. 
  • 1.1K
  • 07 Jan 2021
Topic Review
Gene Mutations in Systemic Mastocytosis
Systemic mastocytosis (SM) is a rare hematologic disease characterized by an abnormal expansion and accumulation of pathological mast cells (MCs) in skin and/or other several extracutaneous tissues such as bone marrow (BM) and the gastro-intestinal tract. Currently, SM is divided into five different diagnostic subtypes according to the World Health Organization (WHO) 2016 classification. These include indolent SM (ISM), smouldering SM (SSM), aggressive SM (ASM), SM with associated haematological neoplasms (SM-AHN) and MC leukaemia (MCL). Additionally, the inclusion of two new subtypes of SM into the classification of the disease is currently under consideration: a variant of ISM known as BM mastocytosis (BMM), which is characterized by a low BM MC burden in the absence of skin lesions, and a very rare (<5%) variant of mastocytosis, which shows tumour mast cells (MCs) with a well-differentiated morphology together with a CD25− CD2− immunophenotype and unique clinical, biological and molecular features, termed well-differentiated SM (WDSM). From a prognostic point of view, all these diagnostic subtypes of SM can be grouped into (i) non-advanced forms of SM (Non-AdvSM), which include BMM, ISM and SSM, typically characterized by a more stable and indolent course of the disease and a life expectancy similar or close to that of a sex- and age-matched population; and (ii) advanced SM (AdvSM) including ASM, SM-AHN and MCL, which typically display an adverse prognosis associated with a significantly shortened life expectancy requiring cytoreductive therapy. Despite this, some ISM patients (<5%) can eventually evolve to SSM and AdvSM. Conversely, a small proportion of AdvSM patients may also show a relatively stable disease course over years or even decades.
  • 1.1K
  • 27 May 2022
Topic Review
MPL Gene
MPL proto-oncogene, thrombopoietin receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Progressive Familial Heart Block
Progressive familial heart block is a genetic condition that alters the normal beating of the heart.
  • 1.1K
  • 24 Dec 2020
Topic Review
MC1R Gene
Melanocortin 1 receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Oculocutaneous Albinism
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.
  • 1.1K
  • 24 Dec 2020
Topic Review
Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
  • 1.1K
  • 25 Dec 2020
Topic Review
LncRNA in Colorectal Cancer
Colorectal cancer is the third most common cause of cancer mortality worldwide, and one of the current hot topics in this field is the identification of markers for identifying patients with high probability of relapse, which may benefit from adjuvant chemotherapy in stage II. In this sense long noncoding RNAs are a promising source of novel cancer biomarkers and therapeutic targets, although to robustly assess their gene expression levels is challenging due to their low expression. We present a protocol (hereafter referred as CoLong design) which couples target enrichment and RNA-seq that allows transcriptomics studies of lncRNAs in formalin-fixed paraffin embedded (FFPE) tissue samples. We show that our new approach alllows to efficiently detect differences in gene expression and somatic mutations in lncRNAs, and we propose several lncRNAs as potential candidates for colorectal cancer. This new approach could represent a promising avenue that would reduce costs and enable more efficient translational research.
  • 1.1K
  • 27 Oct 2020
Topic Review
MT-ND6 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
  • 1.1K
  • 23 Dec 2020
Topic Review
ALX4 Gene
ALX homeobox 4. The ALX4 gene provides instructions for making a member of the homeobox protein family.
  • 1.1K
  • 24 Dec 2020
Topic Review
Low-energy electron Damage to DNA
The complex physical and chemical reactions between the large number of low-energy (0-30 eV) electrons (LEEs) released by high energy radiation interacting with genetic material can lead to the formation of various DNA lesions such as single strand breaks (SSBs), crosslinks (CLs), base modifications, double strand breaks (DSBs) and other clustered lesions.
  • 1.1K
  • 29 Jul 2021
Topic Review
PGT-SR
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab. It is the least well-known of the various forms of PGT but nonetheless provides effective treatment for many carrier couples. Structural chromosomal rearrangements (SRs) lead to infertility, repeated implantation failure, pregnancy loss, and congenitally affected children, despite the balanced parent carrier having no obvious phenotype. A high risk of generating chromosomally unbalanced gametes and embryos is the rationale for PGT-SR, aiming to select for those that are chromosomally normal, or at least balanced like the carrier parent. PGT-SR largely uses the same technology as PGT-A, i.e., initially FISH, superseded by array CGH, SNP arrays, Karyomapping, and, most recently, next-generation sequencing (NGS). Trophectoderm biopsy is now the most widely used sampling approach of all PGT variants, though there are prospects for non-invasive methods. In PGT-SR, the most significant limiting factor is the availability of normal or balanced embryo(s) for transfer. Factors directly affecting this are rearrangement type, chromosomes involved, and sex of the carrier parent. De novo aneuploidy, especially for older mothers, is a common limiting factor.
  • 1.1K
  • 27 Mar 2023
Topic Review
FGA Gene
Fibrinogen alpha chain
  • 1.1K
  • 25 Dec 2020
Topic Review
Immune Gene Rearrangements
The tremendous diversity of the human immune repertoire, fundamental for the defense against highly heterogeneous pathogens, is based on the ingenious mechanism of immune gene rearrangements. Rearranged immune genes encoding the immunoglobulins and T-cell receptors and thus determining each lymphocyte’s antigen specificity are very valuable molecular markers for tracing malignant or physiological lymphocytes. One of their most significant applications is tracking residual leukemic cells in patients with lymphoid malignancies. This so called ‘minimal residual disease’ (MRD) has been shown to be the most important prognostic factor across various leukemia subtypes and has therefore been given enormous attention. 
  • 1.1K
  • 12 Jul 2021
Topic Review
Mainzer-Saldino Syndrome
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.
  • 1.1K
  • 23 Dec 2020
Topic Review
X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.  
  • 1.1K
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback